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    Edem1 ER degradation enhancer, mannosidase alpha-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 192193, updated on 27-Nov-2024

    Summary

    Official Symbol
    Edem1provided by MGI
    Official Full Name
    ER degradation enhancer, mannosidase alpha-like 1provided by MGI
    Primary source
    MGI:MGI:2180139
    See related
    Ensembl:ENSMUSG00000030104 AllianceGenome:MGI:2180139
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    EDEM; mKIAA0212; A130059K23Rik
    Summary
    Enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity. Involved in positive regulation of retrograde protein transport, ER to cytosol and trimming of terminal mannose on C branch. Acts upstream of or within ERAD pathway. Located in endoplasmic reticulum membrane. Is expressed in embryo and liver. Orthologous to human EDEM1 (ER degradation enhancing alpha-mannosidase like protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thymus adult (RPKM 71.9), liver adult (RPKM 21.5) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Edem1 in Genome Data Viewer
    Location:
    6 E2; 6 49.87 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (108800984..108836317)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (108824045..108859356)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E1705 Neighboring gene STARR-seq mESC enhancer starr_16978 Neighboring gene predicted gene, 35359 Neighboring gene STARR-positive B cell enhancer ABC_E8121 Neighboring gene STARR-positive B cell enhancer ABC_E6466 Neighboring gene ADP-ribosylation factor-like 8B Neighboring gene predicted gene, 51409 Neighboring gene predicted gene, 35417 Neighboring gene STARR-positive B cell enhancer mm9_chr6:108775076-108775377 Neighboring gene STARR-positive B cell enhancer ABC_E3668 Neighboring gene STARR-positive B cell enhancer ABC_E3669 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108785919-108786120 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108786185-108786368 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:108789575-108789776 Neighboring gene predicted pseudogene 6749 Neighboring gene predicted gene, 53302

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (4) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0212

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    NOT enables alpha-mannosidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables misfolded protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables misfolded protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in aggresome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in aggresome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum quality control compartment IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum quality control compartment ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ER degradation-enhancing alpha-mannosidase-like protein 1
    Names
    ER degradation ER degradation enhancer, mannosidase alpha-like 1
    ER degradation-enhancing alpha-mannosidase-like 1
    NP_619618.1
    XP_006505809.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_138677.2NP_619618.1  ER degradation-enhancing alpha-mannosidase-like protein 1

      See identical proteins and their annotated locations for NP_619618.1

      Status: VALIDATED

      Source sequence(s)
      AB042828, AC132443, BB619976
      Consensus CDS
      CCDS20402.1
      UniProtKB/Swiss-Prot
      Q8CFM1, Q925U4
      UniProtKB/TrEMBL
      Q3U9S2
      Related
      ENSMUSP00000086565.4, ENSMUST00000089162.5
      Conserved Domains (1) summary
      pfam01532
      Location:132577
      Glyco_hydro_47; Glycosyl hydrolase family 47

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000072.7 Reference GRCm39 C57BL/6J

      Range
      108800984..108836317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006505746.5XP_006505809.1  ER degradation-enhancing alpha-mannosidase-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006505809.1

      UniProtKB/TrEMBL
      Q8BYV2
      Conserved Domains (1) summary
      pfam01532
      Location:1387
      Glyco_hydro_47; Glycosyl hydrolase family 47

    RNA

    1. XR_001785109.3 RNA Sequence